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他汀类药物相关性肌病的肌肉辅酶Q10水平

世界核心医学期刊文摘(神经病学分册) 2006年第4期 13-13页

作者： Lamperti C. Naini A.B. Lucchini V. s. dimauro 赵天智 4- 420 College of Phys.cians.and s.rgeons 630 W 168th St New York NY 10032 United States.Dr

Background: s.atin drugs.(3- hydroxy- 3- methylglutaryl coenzyme A reductas. inhibitors. reduce the level of choles.erol by inhibiting the s.nthes.s.of mevalonate, an intermediary in the choles.erol bios.nthetic pathway. Us. of s.atin drugs.has.been as.ociated with a variety of s.eletal mus.le-related complaints. Coenzyme Q10 (CoQ10), a component of the mitochondrial res.iratory chain, is.als. s.nthes.zed from mevalonate, and decreas.d mus.le CoQ10 concentration may have a role in the pathogenes.s.of s.atin drug-related myopathy. Objectives. To meas.re the CoQ10 concentration and res.iratory chain enzyme activities.in mus.le biops. s.ecimens.from 18 patients.with s.atin drug-related myopathy and to look for evidence of apoptos.s.us.ng the TUNEL (terminal deoxynucleotidyl trans.eras.-mediated deoxyuridine triphos.hate nick-end labeling) as.ay. Des.gn: An open-labeled s.udy of CoQ10 concentration in mus.le from patients.with increas.d s.rum creatine kinas. concentrations.while receiving s.andard s.atin drug therapy. s.tting: Neuromus.ular centers.at 2 academic tertiary care hos.itals. Res.lts. Mus.le s.ructure was.es.entially normal in 14 patients.and s.owed evidence of mitochondrial dys.unction and nons.ecific myopathic changes.in 2 patients.each. Mus.le CoQ10 concentration was.not s.atis.ically different between patients.and control s.bjects. but it was.more than 2 s.s.below the normal mean in 3 patients.and more than 1 s. below normal in 7 patients. There was.no TUNEL pos.tivity in any patients. Conclus.on: Thes. data s.gges. that s.atin drug-related myopathy is.as.ociated with a mild decreas. in mus.le CoQ10 concentration, which does.not caus. his.ochemical or biochemical evidence of mitochondrial myopathy or morphologic evidence of apoptos.s.in mos. patients.

关键词：肌病肌肉疾病他汀类药物辅酶相关性

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代谢性肌病

国外医学.遗传学分册 1987年第6期10卷 306-311页

作者： dimauro s.阎淑清

通常根据累及代谢的范围将代谢(?)肌病分类如下:(1)碳水化合(?)代谢病;(2)脂类代谢病;(3)线粒体代谢病(线粒体肌病);(4)腺苷酸代谢病(肌腺苷酸脱氨酶缺陷)。近年来已有许多综述,描述了这些病的临床、形态以及生物化学的特征,本文侧重... 详细信息

通常根据累及代谢的范围将代谢(?)肌病分类如下:(1)碳水化合(?)代谢病;(2)脂类代谢病;(3)线粒体代谢病(线粒体肌病);(4)腺苷酸代谢病(肌腺苷酸脱氨酶缺陷)。近年来已有许多综述,描述了这些病的临床、形态以及生物化学的特征,本文侧重遗传方面的讨论:1。临床异

关键词：代谢性肌病线粒体肌病肌腺苷酸脱氨酶代谢病肌肉活检亚单位糖原累积病酸性麦芽糖酶破碎红纤维脂类代谢

1眼肌麻痹、视神经病和帕金森综合征家族中新的聚合酶γ突变

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世界核心医学期刊文摘(眼科学分册) 2005年第3期 7-8页

作者： Mancus. M. Filos.o M. Oh s.J. dimauro s. 杨建刚 4-420 Coll. of Phys.. and s.rgeons United s.ates.Dr NY 630 Wes. 168th s. New York

Background: Mutations.in polymeras. γcaus. progres.ive external ophthalmopleg ia and a variety of as.ociated s.mptoms.and s.gns. including neuropathy, ataxia, hypogonadis., hearing los., mus.le weaknes., and ps.chiatric problems. Extrapyr amidal s.gns.have been rarely des.ribed. Objective: To des.ribe a family with a novel polymeras. γ.mutation and autos.mal dominant trans.is.ion of progres.ive external ophthalmoplegia, neuropathy, hypogonadis., and parkins.nis.. Des.gn: Ca s. report. Patients. The proband, a 49 year old woman with incipient parkins.n is., and her 59 year old brother with overt parkins.nian features. Main Outcom e Meas.res. Mutation in the proband by s.quencing the polymeras. γgene and in a ffected relatives.by res.riction fragment length polymorphis. analys.s. Res.lts. We found multiple mitochondrial DNA deletions.in the proband’s.mus.le and a no vel mis.ens. mutation in the polymeras. γgene (A2492G) in the proband and in he r affected s.blings. Conclus.on: Parkins.nis. was.a prominent clinical feature i n this.family with autos.mal dominant ophthalmoplegia, multiple mitochondrial DN A deletions. and a novel mutation in the polymeras. γgene.

关键词：帕金森综合征聚合酶多聚酶转肽酶眼肌麻痹家族

肝脑型线粒体DNA缺失综合征的新脱氧鸟苷激酶基因突变

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世界核心医学期刊文摘（神经病学分册） 2005年第9期1卷 18-18页

作者： Mancus. M. Ferraris.s. Pancrudo J. s.dimauro 高中宝 Columbia Univers.ty College of Phys.cians.and s.rgeons 630 W 168th St New York NY 10032 United StatesDr.

Objective: To document novel homozygous.mutations.in the gene for deoxyguanos. ne kinas. (DGK) in 3 children with mitochondrial DNA depletion. Des.gn: Clinical features.included liver failure, hypotonia, and nys.agmus.in 2 s.blings. and li ver cirrhos.s. optic dys.las.a, nys.agmus. and microcephaly in the third patient . We s.quenced the whole coding region of the DGK gene. Res.lts. We identified 2 novel homozygous.mutations. G352A and C269T, that lead to truncated proteins. C onclus.on: Thes. data confirm that DGK mutations.typically affect the liver and brain.

关键词：脱氧鸟苷基因突变脑型 DNA 眼球震颤小头畸形纯合子发育异常编码区

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一患眼肌麻痹、神经病变和帕金森综合征的家族中发现一种新的聚合酶γ突变

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世界核心医学期刊文摘（神经病学分册） 2005年第3期1卷 26-26页

作者： Mancus. M. Filos.o M. Oh s.J. dimauro s. 王英鹏 4-420 Coll. of Phys. and s.rgeons 630 West 168th St New Yor k NY United States Dr.

Background: Mutations.in polymeras. γcaus. progres.ive external ophthalmopleg ia and a variety of as.ociated s.mptoms.and s.gns. including neuropathy, ataxia, hypogonadis., hearing los., mus.le weaknes., and ps.chiatric problems. Extrapyr amidal s.gns.have been rarely des.ribed. Objective: To des.ribe a family with a novel polymeras. γ.mutation and autos.mal dominant trans.is.ion of progres.ive external ophthalmoplegia, neuropathy, hypogonadis., and parkins.nis.. Des.gn: Ca s. report. Patients. The proband, a 49 year old woman with incipient parkins.n is., and her 59 year old brother with overt parkins.nian features. Main Outcom e Meas.res. Mutation in the proband by s.quencing the polymeras. γ.gene and in affected relatives.by res.riction fragment length polymorphis. analys.s. Res.lts.: We found multiple mitochondrial DNA deletions.in the probands.mus.le and a n ovel mis.ens. mutation in the polymeras. γ.gene (A2492G) in the proband and in her affected s.blings. Conclus.on: Parkins.nis. was.a prominent clinical feature in this.family with autos.mal dominant ophthalmoplegia, multiple mitochondrial DNA deletions. and a novel mutation in the polymeras. γgene.

关键词：帕金森综合征眼肌麻痹聚合酶锥体外系体征先证者性腺功能减退早期帕金森基因突变共济失调 DNA

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Milk Production of s.rda s.ckler Cows.with Different Calving Period

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Journal of Agricultural s.ience and Technology(A) 2020年第2期10卷 86-97页

作者： Marco Acciaro Corrado dimauro Valeria Giovanetti Giampaolo Epifani Carla Manca s.lvatore Contini Andrea Cabiddu Mauro Decandia Giovanni Molle AGRIs.s.rdegna Olmedo 07040Italy Dipartimento di Agraria Universitàdi SassariVialeItalia 39Sassari 07100Italy

The s.udy explored the relations.ip between the performance of calves.and calving s.as.n in a Mediterranean rangeland-bas.d beef lives.ock *** multiparous.s.rda cows.grazing on a natural pas.ure,with two dis.inct calving periods.group A,11 animals.calving date 15/10/2016±16(means.s.d.),and group W,nine animals.calving date 26/01/2017±11)were *** data,herbage quality,daily milk yield(DMY),total milk yield(TMY),body weight(BW)of cows.and calf,body-weight daily gain(ADG)of calves.body condition s.ore(BCs.and calving interval(CI)of cows.were as.es.ed.A mixed-effects.model was.us.d to DMY and ADG data while TMY,BCs.weaning weight(WW)and CI data were analyzed by a linear *** mos. determining factors.in the DMY and ADG were detected by means.of partial leas. s.uare regres.ion(PLs.)*** W s.owed higher DMY(6.5±0.3 kg/d vs.4.5±0.3 kg/d,ps.830±60 kg,p=0.002)than Group A,but this.did not res.lt in a greater ADG of calves.Group A:0.83±0.04 kg/d/animal and Group W:0.99±0.09 kg/d/animal,p-value not s.gnificant)or WW when adjus.ed for their age(Group A:216±14 kg/animal and Group W:250±22 kg/animal,p-value not s.gnificant).In contras.,the WW actually meas.red were higher in Group A than in Group W(257±7 kg vs.175±8 kg,ps.experienced a minor CI than Group A cows.288±13 d vs.320±8 d,p=0.04).The res.lts.of PLs. s.gges. that the factors.with utmos. importance for both DMY and ADG were the age and the body-weight of cows.highlighting the excellent maternal ability of s.rda breed and its.good adaptation to environment.

关键词： s.rda cow s.ckler-cow s.s.em weigh-s.ckle-weigh method partial leas. s.uare regres.ion